Author

Emma Cowan

National Health ServiceORCID 0000-0003-1367-930XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:whole-exome sequencing· 3 Research Focus:database / resource· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Research Focus:benchmarking· 1 Approach:experimental assay· 1

Frequent Co-Authors

Alan R. ShuldineriD· 3 shared Gannie TzonevaiD· 3 shared James F. WilsoniD· 3 shared Lucija KlarićiD· 3 shared Shona M. KerriD· 3 shared Zosia MiedzybrodzkaiD· 3 shared Lesley Snadden· 2 shared Marisa D. MuckianiD· 2 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Alan R. ShuldinerORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 14, 2025

Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results

Shona M. Kerr, Lucija Klarić, Marisa D. Muckian…·James F. Wilson

The paper returns actionable genetic results to 4,198 Scottish volunteers from the Viking Genes cohort, identifying 108 actionable genotypes in 23 genes and notifying 64 participants.

7 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedOct 22, 2024

Two founder variants account for over 90% of pathogenic BRCA alleles in Orkney and Shetland

Shona M. Kerr, Lucija Klarić, Marisa D. Muckian…·James F. Wilson

The paper identifies two founder BRCA variants in Orkney and Shetland populations, accounting for 93.5% of pathogenic BRCA alleles.

5 citations

humanwhole-exome sequencing

𝕏 PostBluesky

Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedMar 16, 2023

Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians

Shona M. Kerr, Emma Cowan, Lucija Klarić…·Zosia Miedzybrodzka

The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.

9 citations

humanwhole-exome sequencing

𝕏 PostBluesky